RFWD3, ring finger and WD repeat domain 3, 55159

N. diseases: 119; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.320 GeneticVariation disease BEFREE Although RFWD3 mutations have thus far been detected in a single child with FA, we propose RFWD3 as an FA gene, FANCW, supported by cellular paradigm systems and an animal model. 28691929 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.320 GermlineCausalMutation disease ORPHANET Although RFWD3 mutations have thus far been detected in a single child with FA, we propose RFWD3 as an FA gene, FANCW, supported by cellular paradigm systems and an animal model. 28691929 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.320 GeneticVariation disease BEFREE An amino acid substitution in the WD40 repeats of RFWD3 (I639K) found in a new FA subtype abolishes interaction of RFWD3 with RPA, thereby preventing RFWD3 recruitment to sites of ICL-induced replication fork stalling. 28575657 2017